{"id":8637,"date":"2021-06-16T16:03:04","date_gmt":"2021-06-16T16:03:04","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/?p=8637"},"modified":"2026-01-05T18:52:03","modified_gmt":"2026-01-05T18:52:03","slug":"congenital-adrenal-hyperplasia","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/es\/congenital-adrenal-hyperplasia\/","title":{"rendered":"Diagn\u00f3stico de Hiperplasia Suprarrenal Cong\u00e9nita"},"content":{"rendered":"<div class=\"7ca9444b8380138fe077da07353677a4\" data-index=\"1\" style=\"float: none; margin:0px 0 0px 0; text-align:center;\">\n<script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script>\r\n<!-- MC 2019- Horizontal -->\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-client=\"ca-pub-0127150553352455\"\r\n     data-ad-slot=\"3806776041\"\r\n     data-ad-format=\"auto\"\r\n     data-full-width-responsive=\"true\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script>\n<\/div>\n<p>La hiperplasia suprarrenal cong\u00e9nita (HSC) es una enfermedad de m\u00faltiples desequilibrios hormonales. Las mutaciones en CYP21A2 (el gen que codifica la 21-hidroxilasa, una enzima del citocromo P-450) provocan la falta de 21-hidroxilasa, que es necesaria para la producci\u00f3n de cortisol y aldosterona en la corteza suprarrenal. Una deficiencia de esta enzima tiene efectos en cascada. El cortisol reducido conduce a la sobreproducci\u00f3n de corticotropina hipofisaria, que estimula la acumulaci\u00f3n de precursores de cortisol y su posterior desviaci\u00f3n a trav\u00e9s de las v\u00edas de esteroides que producen andr\u00f3genos suprarrenales. Hoy en d\u00eda, la forma cl\u00e1sica es la causa m\u00e1s com\u00fan de genitales at\u00edpicos en reci\u00e9n nacidos 46, XX y de insuficiencia suprarrenal primaria durante la infancia.<!--more--><\/p>\n<p><strong>Diagn\u00f3stico de hiperplasia suprarrenal cong\u00e9nita<\/strong><\/p>\n<table style=\"border-collapse: collapse; width: 100%;\" border=\"1\">\n<tbody>\n<tr>\n<td style=\"width: 15.4762%;\"><strong>Abordaje<\/strong><\/td>\n<td style=\"width: 34.5238%;\"><strong>Infancia<\/strong><\/td>\n<td style=\"width: 25%;\"><strong>Pre-adolescencia<\/strong><\/td>\n<td style=\"width: 25%;\"><strong>Adolescencia y Adultez<\/strong><\/td>\n<\/tr>\n<tr>\n<td style=\"width: 15.4762%;\">S\u00edntomas y signos en la presentaci\u00f3n<\/td>\n<td style=\"width: 34.5238%;\">Cribado positivo del reci\u00e9n nacido, genitales at\u00edpicos (46, XX), mala alimentaci\u00f3n, p\u00e9rdida de peso, deshidrataci\u00f3n con sodio bajo, potasio elevado<\/td>\n<td style=\"width: 25%;\"><span style=\"font-family: inherit; font-size: inherit;\">Velocidad de crecimiento a<\/span>umentada, pubarquia precoz \u2020, olor apocrino adulto de inicio temprano<\/td>\n<td style=\"width: 25%;\">Hirsutismo, oligomenorrea, subfertilidad<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 15.4762%;\">Hallazgos hormonales<\/td>\n<td style=\"width: 34.5238%;\">Incremento 17-OHP* y androstenediona, cortisol disminuido (en HSC cl\u00e1sico)<br \/>\nEstimulaci\u00f3n con corticotropina (cosyntropin): 17-OHP &gt;1000 ng\/dl (30 nmol\/litro), usualmente &gt;5000 ng\/dl (150 nmol\/litro) en HSC cl\u00e1sica<br \/>\nDescartar otros trastornos raros de esteroidog\u00e9nesis\u2021<\/td>\n<td style=\"width: 25%;\">Igual que para la infancia<\/td>\n<td style=\"width: 25%;\">Estimulaci\u00f3n con corticotropina (cosyntropin): 17-OHP &gt;1000 ng\/dl (30 nmol\/litro)<br \/>\nEn HSC no cl\u00e1sica, cortisol normal o casi normal<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 15.4762%;\">Consideraciones adicionales<\/td>\n<td style=\"width: 34.5238%;\">Ecograf\u00eda p\u00e9lvica para determinar la presencia o ausencia de \u00fatero en casos de genitales at\u00edpica<br \/>\nMedici\u00f3n de electrolitos para evaluar la homeostasis del sodio y potasio<br \/>\nLa prueba de estimulaci\u00f3n puede retrasarse en beb\u00e9s enfermos<\/td>\n<td style=\"width: 25%;\">Evaluaci\u00f3n radiogr\u00e1fica de edad \u00f3sea (mano izquierda) para evaluar la maduraci\u00f3n esquel\u00e9tica<br \/>\nDistinguir la HSC cl\u00e1sica de la no cl\u00e1sica sobre la base de los valores de cortisol y la gravedad de la enfermedad<\/td>\n<td style=\"width: 25%;\">Temprano en la ma\u00f1ana, fase folicular 17-OHP &lt;200 ng\/dl (6 nmol\/litro) a menudo descarta HSC no cl\u00e1sica<br \/>\nGenotipificaci\u00f3n y asesoramiento gen\u00e9tico antes del embarazo<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>*17-OHP denota 17-hidroxiprogesterona.<br \/>\n\u2020 La pubarquia precoz se define como la presencia de vello p\u00fabico antes de los 8 a\u00f1os en las ni\u00f1as y los 9 a\u00f1os en los ni\u00f1os.<br \/>\n\u2021 Medici\u00f3n de 17-OHP, cortisol, 11-deoxicortisol, 17-hidroxipregnenolona, dehidroepiandrosterona, y androstenediona.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Bibliograf\u00eda:<\/strong><\/p>\n<ol>\n<li>Merke DP, Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med. 2020 Sep 24;383(13):1248-1261. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32966723\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-4088. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30272171\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>Creado Jun 11, 2021.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>La hiperplasia suprarrenal cong\u00e9nita (HSC) es una enfermedad de m\u00faltiples desequilibrios hormonales. Las mutaciones en CYP21A2 (el gen que codifica la 21-hidroxilasa, una enzima del citocromo P-450) provocan la falta de 21-hidroxilasa, que es necesaria para la producci\u00f3n de cortisol y aldosterona en la corteza suprarrenal. Una deficiencia de esta enzima tiene efectos en cascada. [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"no","_lmt_disable":"no","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[153],"tags":[2375,2381,2379,43,123,13,2377,2380,2376,2378],"class_list":["post-8637","post","type-post","status-publish","format-standard","hentry","category-endocrinology-and-metabolism","tag-adrenal","tag-cah","tag-congenita","tag-congenital","tag-diagnosis","tag-diagnostico","tag-hiperplasia","tag-hsc","tag-hyperplasia","tag-suprarrenal"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Diagn\u00f3stico de Hiperplasia Suprarrenal Cong\u00e9nita - MedicalCRITERIA.com<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/medicalcriteria.com\/web\/congenital-adrenal-hyperplasia\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"[:es]Diagn\u00f3stico de Hiperplasia Suprarrenal Cong\u00e9nita[:en]Diagnosis of Congenital Adrenal Hyperplasia[:] - MedicalCRITERIA.com\" \/>\n<meta property=\"og:description\" content=\"La hiperplasia suprarrenal cong\u00e9nita (HSC) es una enfermedad de m\u00faltiples desequilibrios hormonales. 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